Early onset dystonia

Gene: DDC

Green List (high evidence)

DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 13 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded rating from Red to Green, in line with the review by Lothar Schlueter. Dystonia as a feature of the phenotype, most commonly arising in infancy. DDC is already Green on the GMS 'Childhood onset dystonia or chorea or related movement disorder' version 1.62 panel.
Created: 20 Nov 2020, 3:43 p.m. | Last Modified: 20 Nov 2020, 3:43 p.m.
Panel Version: 1.82

Lothar Schlueter (PTC Therapeutics)

Green List (high evidence)

Dystonia has been reported as one of the key symptoms in patients with aromatic L-amino acid decarboxylase deficiency (AADCD) (63/117 patients, 54%, Wassenberg et al. 2017). Although it was not possible to describe the precise age of onset and duration for every symptom, the best available data suggest dystonia to be a key symptom from infancy onwards (Wassenberg et al. 2017). In children with dystonia (and other symptoms like hypotonia), other movement disorders (especially oculogyric crisis), developmental delay, and autonomic symptoms, AADCD should be considered. So far, in 123 known patients, 79 disease-causing variants in the DDC gene have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp) (Himmelreich, 2019).
Created: 25 Feb 2020, 1:11 p.m. | Last Modified: 25 Feb 2020, 1:11 p.m.
Panel Version: 1.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
  • Floppy child
  • Dystonia
  • Hypotonia
  • Developmental delay
  • Oculogyric crisis
OMIM
107930
Clinvar variants
Variants in DDC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Nov 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DDC were changed from Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Floppy child; Dystonia; Hypotonia; Developmental delay; Oculogyric crisis

20 Nov 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DDC were set to

20 Nov 2020, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ddc has been classified as Green List (High Evidence).

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DDC was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory